KDM5D

KDM5D is a gene that encodes a protein in humans. This protein is part of the Jumonji domain-containing protein family, which is involved in the regulation of gene expression. The KDM5D gene is located on the Y chromosome and is thought to play a role in male sex determination.

Function

The protein encoded by the KDM5D gene is a histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. It preferentially demethylates tri- and di-methylated lysine 4 of histone H3. Histone demethylation does not proceed through the formal intermediate hemiaminal. The protein is also involved in spermatogenesis by regulating expression of target genes such as PRM1 and TMP1 which are required for packaging and condensation of sperm chromatin.

Clinical significance

Mutations in the KDM5D gene have been associated with various diseases, including cancer. In particular, loss of function of this gene has been linked to the development of prostate cancer. The gene is also thought to play a role in infertility in men, as it is involved in the development of sperm.

See also

• Histone demethylase
• Jumonji domain-containing protein family
• Y chromosome

References

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